Variant report

Variant	esv3325478
Chromosome Location	chr5:179639646-179642344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:179640139-179640313	K562	blood:	n/a	chr5:179640170-179640179 chr5:179640170-179640179 chr5:179640171-179640180
2	CTCF	chr5:179641880-179642030	HepG2	liver:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
3	CTCF	chr5:179641740-179641890	HCT-116	colon:	n/a	chr5:179641750-179641758
4	CTCF	chr5:179641800-179641950	Hela-S3	cervix:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
5	CTCF	chr5:179641861-179641958	MCF-7	breast:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
6	CTCF	chr5:179640355-179640403	Hela-S3	cervix:	n/a	chr5:179640372-179640385
7	CTCF	chr5:179640260-179640410	HCM	heart:	n/a	chr5:179640372-179640385
8	CTCF	chr5:179641868-179641940	MCF-7	breast:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
9	CTCF	chr5:179641780-179641930	Hela-S3	cervix:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
10	CTCF	chr5:179641841-179641976	Hela-S3	cervix:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
11	CTCF	chr5:179641900-179642050	SK-N-SH_RA	brain:	n/a	chr5:179641909-179641918
12	CTCF	chr5:179640220-179640370	A549	lung:	n/a	n/a
13	CTCF	chr5:179640280-179640430	HPAF	blood vessel:	n/a	chr5:179640372-179640385
14	CTCF	chr5:179641818-179641951	HepG2	liver:	n/a	chr5:179641887-179641900 chr5:179641909-179641918
15	CTCF	chr5:179640626-179641159	GM19239	blood:	n/a	n/a
16	CTCF	chr5:179640320-179640470	HEK293	kidney:	n/a	chr5:179640372-179640385
17	CTCF	chr5:179640315-179640449	LNCaP	prostate:	n/a	chr5:179640372-179640385
18	FOS	chr5:179640202-179640271	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:179640148-179640323	MCF10A-Er-Src	breast:	n/a	chr5:179640175-179640183
20	MAX	chr5:179639924-179640395	MCF-7	breast:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640020-179640030 chr5:179640169-179640180
21	MAX	chr5:179640526-179641256	NB4	blood:	n/a	n/a
22	MXI1	chr5:179639511-179640461	SK-N-SH	brain:	n/a	n/a
23	MYC	chr5:179640727-179640735	MCF-7	breast:	n/a	n/a
24	MYC	chr5:179640849-179640873	MCF-7	breast:	n/a	n/a
25	MYC	chr5:179640935-179641144	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr5:179640742-179640771	MCF-7	breast:	n/a	n/a
27	MYC	chr5:179640775-179640843	MCF-7	breast:	n/a	n/a
28	MYC	chr5:179640844-179640845	MCF-7	breast:	n/a	n/a
29	MYC	chr5:179640164-179640338	MCF10A-Er-Src	breast:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640169-179640180
30	NR2C2	chr5:179640455-179641209	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:179640698-179641278	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr5:179641187-179641223	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:179640945-179641173	HepG2	liver:	n/a	n/a
34	REST	chr5:179639431-179639652	Hela-S3	cervix:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559
35	REST	chr5:179639379-179639718	H1-hESC	embryonic stem cell:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559
36	REST	chr5:179639378-179639711	H1-hESC	embryonic stem cell:	n/a	chr5:179639597-179639605 chr5:179639541-179639554 chr5:179639514-179639527 chr5:179639526-179639539 chr5:179639550-179639559
37	SMC3	chr5:179640357-179640388	Hela-S3	cervix:	n/a	n/a
38	SUZ12	chr5:179640429-179641248	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr5:179641343-179641645	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr5:179639981-179640397	ECC-1	luminal epithelium:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
41	USF1	chr5:179639971-179640319	A549	lung:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
42	USF1	chr5:179640008-179640308	A549	lung:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
43	USF1	chr5:179639982-179640308	SK-N-SH_RA	brain:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
44	USF1	chr5:179639976-179640431	ECC-1	luminal epithelium:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
45	USF1	chr5:179639977-179640356	SK-N-SH	brain:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
46	USF1	chr5:179640078-179640244	HepG2	liver:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
47	USF1	chr5:179640056-179640282	SK-N-SH_RA	brain:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
48	USF2	chr5:179640062-179640352	Hela-S3	cervix:	n/a	chr5:179640170-179640179 chr5:179640170-179640179 chr5:179640171-179640180 chr5:179640169-179640180

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179640174-179640224	NT2-D1	testis:	n/a
2	chr5:179640174-179640224	AG09319	gingival:	n/a
3	chr5:179640174-179640224	HUVEC	blood vessel:	n/a
4	chr5:179640174-179640224	H1-hESC	embryonic stem cell:	embryo
5	chr5:179640174-179640224	GM12878	blood:	n/a
6	chr5:179640174-179640224	HCPEpiC	choroid plexus:	n/a
7	chr5:179640174-179640224	Caco-2	colon:	n/a
8	chr5:179640174-179640224	IMR90	lung:	fetal
9	chr5:179640174-179640224	MCF-7	breast:	n/a
10	chr5:179640174-179640224	HEEpiC	esophagus:	n/a
11	chr5:179640174-179640224	HL-60	blood:	n/a
12	chr5:179640174-179640224	PrEC	prostate:	n/a
13	chr5:179640174-179640224	HRE	kidney:	n/a
14	chr5:179640174-179640224	HRCEpiC	kidney:	n/a
15	chr5:179640174-179640224	U87	brain:	n/a
16	chr5:179640174-179640224	HCF	heart:	n/a
17	chr5:179640174-179640224	PFSK-1	brain:	n/a
18	chr5:179640174-179640224	AG09309	skin:	n/a
19	chr5:179640174-179640224	SAEC	small airway:	n/a
20	chr5:179640174-179640224	AoSMC	blood vessel:	n/a
21	chr5:179640174-179640224	HCM	heart:	n/a
22	chr5:179640174-179640224	GM12892	blood:	n/a
23	chr5:179640174-179640224	SKMC	muscle:	n/a
24	chr5:179640174-179640224	GM06990	blood:	n/a
25	chr5:179640174-179640224	NHBE	bronchial:	n/a
26	chr5:179640174-179640224	MCF10A-Er-Src	breast:	n/a
27	chr5:179640174-179640224	T-47D	breast:	n/a
28	chr5:179640174-179640224	NH-A	brain:	n/a
29	chr5:179640174-179640224	ProgFib	skin:	n/a
30	chr5:179640174-179640224	HepG2	liver:	n/a
31	chr5:179640174-179640224	SK-N-MC	brain:	n/a
32	chr5:179640174-179640224	HRPEpiC	eye:	n/a
33	chr5:179640174-179640224	BJ	skin:	n/a
34	chr5:179640174-179640224	GM12891	blood:	n/a
35	chr5:179640174-179640224	A549	lung:	n/a
36	chr5:179640174-179640224	ovcar-3	ovarian:	n/a
37	chr5:179640174-179640224	NB4	blood:	n/a
38	chr5:179640174-179640224	AG04449	skin:	fetal
39	chr5:179640174-179640224	HAEpiC	amniotic membrane:	n/a
40	chr5:179640174-179640224	LNCaP	prostate:	n/a
41	chr5:179640174-179640224	GM19239	blood:	n/a
42	chr5:179640174-179640224	Hela-S3	cervix:	n/a
43	chr5:179640174-179640224	AG04450	lung:	fetal
44	chr5:179640174-179640224	K562	blood:	n/a
45	chr5:179640174-179640224	RPTEC	kidney:	n/a
46	chr5:179640174-179640224	PANC-1	pancreas:	n/a
47	chr5:179640174-179640224	HEK293	kidney:	embryo
48	chr5:179640174-179640224	SK-N-SH	brain:	n/a
49	chr5:179640174-179640224	NHDF-neo	bronchial:	n/a
50	chr5:179640174-179640224	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179633062..179635561-chr5:179636902..179639752,2	MCF-7	breast:
2	chr5:179635182..179638136-chr5:179641642..179644224,2	K562	blood:
3	chr5:179636157..179639359-chr5:179641461..179644523,3	MCF-7	breast:
4	chr13:40239269..40240269-chr5:179640269..179641206,2	MCF-7	breast:
5	chr5:179638635..179640906-chr5:179719445..179721732,2	K562	blood:
6	chr5:179640079..179643387-chr5:179646560..179650820,4	K562	blood:

Variant related genes	Relation type
RASGEF1C	TF binding region
RASGEF1C	CpG island
ENSG00000248367	chromatin interactions
ENSG00000146090	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55696769	chr5:179639653-179639654	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549166374	chr5:179639656-179639657	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10479570	chr5:179639674-179639675	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534689567	chr5:179639714-179639715	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112785918	chr5:179639792-179639793	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184745982	chr5:179639834-179639835	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4273568	chr5:179639885-179639886	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs62406981	chr5:179639886-179639887	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574571011	chr5:179639902-179639903	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375662529	chr5:179639936-179639937	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56264608	chr5:179639951-179639952	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79966524	chr5:179639955-179639956	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543628038	chr5:179640027-179640028	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552096359	chr5:179640029-179640030	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529370087	chr5:179640037-179640038	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13189867	chr5:179640054-179640055	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77589133	chr5:179640083-179640084	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527579813	chr5:179640103-179640104	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs187883382	chr5:179640109-179640110	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547716215	chr5:179640142-179640143	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533178964	chr5:179640150-179640151	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570330680	chr5:179640171-179640172	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192176161	chr5:179640175-179640176	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563591524	chr5:179640195-179640196	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78221222	chr5:179640196-179640197	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs368930411	chr5:179640203-179640204	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs76030765	chr5:179640263-179640264	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567457479	chr5:179640282-179640283	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554319196	chr5:179640286-179640287	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184976276	chr5:179640287-179640288	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs55862335	chr5:179640288-179640289	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549816680	chr5:179640294-179640295	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571277105	chr5:179640295-179640296	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538270234	chr5:179640329-179640330	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs78817442	chr5:179640334-179640335	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535555869	chr5:179640343-179640344	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555987869	chr5:179640375-179640376	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576355712	chr5:179640382-179640383	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537333982	chr5:179640403-179640404	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533617232	chr5:179640405-179640406	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138453220	chr5:179640458-179640459	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10434804	chr5:179640477-179640478	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573893774	chr5:179640483-179640484	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200935954	chr5:179640527-179640528	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201106955	chr5:179640530-179640531	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534187980	chr5:179640567-179640568	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554019266	chr5:179640577-179640578	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536048279	chr5:179640579-179640580	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541567759	chr5:179640589-179640590	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559603960	chr5:179640595-179640596	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179635800-179640000	Weak transcription	Brain Angular Gyrus	brain
2	chr5:179635800-179640600	Weak transcription	Fetal Kidney	kidney
3	chr5:179636400-179639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:179636600-179639800	Weak transcription	Pancreas	Pancrea
5	chr5:179636600-179640000	Weak transcription	Fetal Brain Male	brain
6	chr5:179636600-179640400	Weak transcription	Fetal Heart	heart
7	chr5:179636800-179640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:179638200-179640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179638800-179640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:179639200-179640000	Enhancers	Fetal Intestine Small	intestine
11	chr5:179639200-179640400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr5:179639400-179640000	Enhancers	Right Ventricle	heart
13	chr5:179639400-179640200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:179639400-179640600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:179639400-179640600	Enhancers	Colon Smooth Muscle	Colon
16	chr5:179639400-179640600	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:179639600-179640000	Bivalent Enhancer	Placenta	Placenta
18	chr5:179639600-179640200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:179639600-179640200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr5:179639600-179640400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:179639600-179640400	Enhancers	Brain Hippocampus Middle	brain
22	chr5:179639600-179640600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:179639800-179640000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:179639800-179640200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:179639800-179640200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:179639800-179640400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:179639800-179640400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:179639800-179640400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:179639800-179640600	Enhancers	Pancreas	Pancrea
30	chr5:179639800-179641000	Enhancers	Esophagus	oesophagus
31	chr5:179640000-179640200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:179640000-179640200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:179640000-179640200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:179640000-179640400	Enhancers	Brain Angular Gyrus	brain
35	chr5:179640000-179640400	Enhancers	Placenta	Placenta
36	chr5:179640000-179640600	Enhancers	Fetal Brain Male	brain
37	chr5:179640400-179641000	Enhancers	Fetal Heart	heart
38	chr5:179640400-179641200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:179640400-179645200	Weak transcription	Brain Angular Gyrus	brain
40	chr5:179640600-179640800	Flanking Active TSS	Fetal Brain Male	brain
41	chr5:179640600-179641000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:179640600-179641200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:179640600-179641200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr5:179640600-179641200	ZNF genes & repeats	Fetal Kidney	kidney
45	chr5:179640600-179641200	ZNF genes & repeats	Pancreas	Pancrea
46	chr5:179640800-179641000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:179640800-179641200	Bivalent/Poised TSS	Fetal Lung	lung
48	chr5:179641000-179641200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:179641000-179641200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:179641200-179643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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